+This track collection shows Mobile Element Insertions (MEIs) in the +human genome. Mobile elements are stretches of DNA that have copied themselves +into new genomic locations during evolution, and a few families remain +active enough to keep producing new insertions in the human population +today. The three element classes responsible for almost all MEIs in +humans are Alu (~300 bp SINE retrotransposons), L1/LINE-1 +(typically 6 kb autonomous retrotransposons) and SVA (composite +elements of ~700-3000 bp). Polymorphic MEIs - sites where some individuals +carry the inserted element while others do not - are an important source +of structural variation, can disrupt or alter gene expression, and have +been implicated in a number of human diseases. +
+ ++Tracks in this collection report MEI calls assembled from long-read +genome sequencing. Items are colored by element class. +
+ ++Related: Long-read Structural Variants +contains the parent SV callsets from which several of these MEI tracks +are derived. RepeatMasker shows +all annotated mobile elements in the reference genome (regardless of +whether they are polymorphic). +
+ ++Each MEI is shown as a 1-bp anchor block at the position where the +insertion attaches to the reference. Items are colored by element class: +
++Filters available on the subtrack configuration page allow restricting +the displayed items by element class, insertion length, allele frequency, +number of carrier samples, the number of MEI callers that supported the +call, validation by L1ME-AID or PALMER, and overlap with reference +segmental duplications and tandem repeats. +
+ ++Each subtrack has its own description page with details on file location, +the autoSql schema, citation and download instructions. +
+ ++Logsdon GA, Ebert P, Audano PA, Loftus M, Porubsky D, Ebler J, Yilmaz F, Hallast P, Prodanov T, Yoo +D et al. + +Complex genetic variation in nearly complete human genomes. +Nature. 2025 Aug;644(8076):430-441. +PMID: 40702183; PMC: PMC12350169 +